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August 1, 1997Journal of Medical GeneticsOpen Access

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

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Authors

KDKimberly F. DohenyHMHeather E. McDermidKHKaren H Harum

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Doheny et al. (1997) studied this question.

synapsesocial.com/papers/6a89b6ab176d2ac34cfbb270https://doi.org/10.1136/jmg.34.8.640
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Clinical, cytogenetic and molecular characterization of seven patients with deletions of chromosome 22q13.31993 · 125 citations
  2. 2Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)1988 · 78 citations
  3. 3Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion1992 · 65 citations
  4. 4Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.1988 · 1,340 citations
  5. 5Regional Localization of over 300 Loci on Human Chromosome 22 Using a Somatic Cell Hybrid Mapping Panel1996 · 27 citations